Symptoms

Type C is the most variable form of the Niemann-Pick disease.

Symptoms may appear and then disappear. Some symptoms may never appear. The rate of progression of the disease is different from person to person and will change over time.

Early Signs

Advanced Symptoms

Late Stage Symptoms

Type C is the most variable form of the Niemann-Pick disease.

Symptoms may appear and then disappear. Some symptoms may never appear. The rate of progression of the disease is different from person to person and will change over time.

jaundice at (or shortly after) birth

an enlarged spleen and/or liver (hepatosplenamegaly)

Difficulty with upward and downward eye movements (Vertical Supranuclear Gaze Palsy).

Difficulty in posturing of limbs (dystonia)

Unsteadiness of gait, clumsiness, problems in walking (ataxia)

Slurred, irregular speech (dysarthria)

Tremors accompanying movement and, in some cases, seizures

Learning difficulties and progressive intellectual decline (Cognitive dysfunction – “dementia”)

Psychological problems

Sudden loss of muscle tone which may lead to falls (cataplexy)

Loss of the ability to speak

Loss of the ability to move facial muscles or swallow

making feeding through a stomach tube necessary

Type C is the most variable form of the Niemann-Pick disease.

​

​Symptoms may appear and then disappear. Some symptoms may never appear. The rate of progression of the disease is different from person to person and will change over time.

jaundice at (or shortly after) birth

an enlarged spleen and/or liver (hepatosplenamegaly)

Difficulty with upward and downward eye movements (Vertical Supranuclear Gaze Palsy).

Difficulty in posturing of limbs (dystonia)

Unsteadiness of gait, clumsiness, problems in walking (ataxia)

Slurred, irregular speech (dysarthria)

Tremors accompanying movement and, in some cases, seizures

Learning difficulties and progressive intellectual decline (Cognitive dysfunction – “dementia”)

Psychological problems

Sudden loss of muscle tone which may lead to falls (cataplexy)

Loss of the ability to speak

Loss of the ability to move facial muscles or swallow

making feeding through a stomach tube necessary​

Symptoms may appear and then disappear. Some symptoms may never appear. The rate of progression of the disease is different from person to person and will change over time.

making feeding through a stomach tube necessary